RT Journal Article
T1 Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance.
A1 Cano, Ainara
A1 Alcalde, Carlos
A1 Belanger-Quintana, Amaya
A1 Cañedo-Villarroya, Elvira
A1 Ceberio, Leticia
A1 Chumillas-Calzada, Silvia
A1 Correcher, Patricia
A1 Couce, Maria Luz
A1 Garcia-Arenas, Dolores
A1 Gomez, Igor
A1 Hernandez, Tomas
A1 Izquierdo-Garcia, Elsa
A1 Martinez Chicano, Damaris
A1 Morales, Montserrat
A1 Pedron-Giner, Consuelo
A1 Petrina-Jauregui, Estrella
A1 Peña-Quintana, Luis
A1 Sanchez-Pintos, Paula
A1 Serrano-Nieto, Juliana
A1 Unceta-Suarez, Maria
A1 Vitoria-Miñana, Isidro
A1 de-Las-Heras, Javier
K1 Aldolase B
K1 Biomarker
K1 Diet
K1 Fructose
K1 Hereditary fructose intolerance
K1 Sialotransferrin profile
K1 Sorbitol
AB Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet for life. Untreated HFI patients present an abnormal transferrin (Tf) glycosylation pattern due to the inhibition of mannose-6-phosphate isomerase by fructose-1-phosphate. Hence, elevated serum carbohydrate-deficient Tf (CDT) may allow the prompt detection of HFI. The CDT values improve when an FSS-restrictive diet is followed; however, previous data on CDT and fructose intake correlation are inconsistent. Therefore, we examined the complete serum sialoTf profile and correlated it with FSS dietary intake and with hepatic parameters in a cohort of paediatric and adult fructosemic patients. To do so, the profiles of serum sialoTf from genetically diagnosed HFI patients on an FSS-restricted diet (n = 37) and their age-, sex- and body mass index-paired controls (n = 32) were analysed by capillary zone electrophoresis. We found that in HFI patients, asialoTf correlated with dietary intake of sucrose (R = 0.575, p< 0.001) and FSS (R = 0.475, p = 0.008), and that pentasialoTf+hexasialoTf negatively correlated with dietary intake of fructose (R = 0.386, p = 0.024) and FSS (R = 0.400, p = 0.019). In addition, the tetrasialoTf/disialoTf ratio truthfully differentiated treated HFI patients from healthy controls, with an area under the ROC curve (AUROC) of 0.97, 92% sensitivity, 94% specificity and 93% accuracy.
SN 2077-0383
YR 2021
FD 2021-06-30
LK http://hdl.handle.net/10668/18126
UL http://hdl.handle.net/10668/18126
LA en
DS RISalud
RD Oct 3, 2025